Osteogenesis imperfecta
Gene: PLOD2
This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: PLOD2; Suggested initial gene rating: greenCreated: 3 Apr 2019, 4:08 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bruck syndrome; osteogenesis imperfecta
Publications
Variants in this GENE are reported as part of current diagnostic practice
https://oi.gene.le.ac.uk/home.php?select_db=PLOD2Created: 8 Dec 2015, noon
Source NHS GMS was added to PLOD2. Rating Changed from Green List (high evidence) to Green List (high evidence)
Phenotypes for PLOD2 were set to Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias; Bruck syndrome; osteogenesis imperfecta
Publications for PLOD2 were set to 22689593
Mode of inheritance for PLOD2 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
PLOD2 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory
PLOD2 was added to Osteogenesis Imperfecta panel. Sources: Expert